2012 Wrap Up...

It's been a while since I've posted here.  To be honest it's mostly due to disillusionment with how things have been going for Aerynn and loss of some of our support network.  But we're slowly rebuilding and working out where we stand and where we are heading for future :)

In wrapping up 2012 we unfortunately still have no diagnosis.  We feel we are moving in the right direction, BUT in saying that we (being us, the Mt G dietician and the Warnambool Paed) still don't have any firm support from the individual specialists who are part of Aerynns medical team in Melbourne.  It's pretty much a case of trying to match her symptoms and working out if we can either support or disprove a possible diagnosis.  

At the moment we are still working with the genetics team in suspecting Russell-Silver Syndrome (the genetics team are also looking at 2 older siblings at another condition which could be unrelated to Aerynns current situation).  We were happy to have it confirmed that Nathan, myself and Aerynn are all chromosomally NORMAL ;)  There are no missing or defective chromosones which is a HUGE relief.  We are now waiting for Aerynn's DNA to be tested (It's been sent off to somewhere in England apparently) to confirm RSS or a couple of other syndromes responsible for short stature.  We saw the genetecist on Dec 19th and they will be following up with more tests, full body xrays and what they called a "second line of investigations" when we see the immunologist and gastro in Melbourne early in the new year.

As for her food issues, we have firm support now in suspecting that Aerynn is unable to absorb fructose.  This is a malabsorption NOT and intollerance.  Basically it appears she may be missing enzymes in her upper gastric system which aid in the digestion of certain foods.  There may be other things we discover down the track that she can't absorb or process, but so far fructose is a firm no-no for Miss A.  Now, if you have been following things you'd remember how she was fed primarily pear...  guess what fruit has a high amount of fructose in it :/  Yup pear!!!  No wonder her poor body was having issues!!!  Since removing all fruit from her diet over the past month or two we have noticed a huge change in her bowel habits and not seeing the undigested foods coming through her system as much anymore :)  Mind you, that has only left her with a diet of Neocate Advance (Vanilla) and chicken so there's not much that she can pass through undigested LOL  Actually, speaking of formulas, our paed does NOT want Aerynn back on the nan HA formula at all!!!  Her symptoms are blaringly obvious a reaction to the dairy and she agrees that while Aerynn was on the Nan HA she went backwards with weight gain, where as we are having positive results with the neocate.  There is no logical reason to even consider forcing her back onto the dairy while we finally have forward progress!!

Our paed is fully behind us demanding when we see the gastro in January that she have the scopes that were cancelled during her hospitalisation.  Not just the colonoscopy but also to push for the gastroscopy.  The hype that it is a dangerous procedure she feels has been played up just to fob us off (we had kinda worked that one out ourselves LOL)  We need the colonoscopy as the genetecist also suspects we may be dealing with a case of Paediatric Crohns Disease along with the paed.  At the very least we need the scope to rule this out.  Crohns would explain so much of Aerynns symptoms - including the sores that are STILL not healing on her bottom and upper thighs.  We are still having intermittent periods of blood in her stools, but it's now got to the stage where we don't even note it down.  It's simply an "Aerynn thing"  The paed is happy with how we are handing her and dealing with her food restrictions, introductions and any relevent reactions so is very happy that we simply deal with these episodes as they come up.  Of course if there is any profuse bleeding etc we will take her to get checked out further ;)  We're not silly enough to think that we have all the answers with her care, but there's no panic in regards to blood and mucous anymore as it's almost I guess "normal" now...

ummm what else...  not really sure if there is anything else medically speaking.  We are simply taking one day at a time and rolling with what her little system throws at us.  Our next block of appointments is on Jan 22nd in Melbourne where we will see a new immunologist (hopefully fresh eyes will give fresh ideas!!) then seeing the genetic team and following through with whatever testing they want done and finally the gastrologist and hoping we get some logic as to why her scopes were cancelled back in October and getting them re-booked.  We'll also be looking for continued support to keep her on the neocate formula rather than re-trialling the dairy based formula. 

 Waiting patiently for her Paed appt in Nov 2012



So, where we are sitting at the moment??  Aerynn is 17 months old, 75cm tall with a head circ of 47.5cm.  She has finally hit the 8 kilo mark (woohoo!!!) weighs 8.54kg and we are finally moving her up into 00 sized clothing :)  She is still very small for her age, but we finally have some forward movement rather than the plateauing that was very concerning. 

So in wrapping up 2012, we have no definite answers but we have leads that need following up.  Aerynn is appearing healthy at first glance, it's only when you sit down and take into account she is only eating a small amount of chicken and can't tolerate anything else therefore really only relying on a specialised formula for all her nutritional requirements at 17 months old that you realise there is something seriously wrong with her.  She has been on almost double the amount of calories that most other children require for over 4 months now and is still not gaining excessive amounts of weight or growth so something is going quite awry in her system.  Then when comparing her to other children her age and where her siblings were at the same age you also realise just how tiny she is.  She's our own little petite princess, but we really want to get to the bottom of what is happening so she can have as normal a life as possible!!  

We are praying that 2013 will bring us the answers we need so we can start taking steps to help her gain the life she deserves :)

Going Nowhere FAST!!!

To say the last few months have been tough is pretty much an understatement.  Aerynn's 1 week re-admission to the RCH ended up with another 3 week admission, more intensive tests but again, no real answers for what IS going on.  We were able to rule out a few nasties such as Meckels Diverticulitis and physical bowel obstructions or bowel deformities, but no explanations as for what is happening inside her tiny little body.  So in the last 8 weeks, 2 were spent with an extremely ill little girl and running around the countryside for appointments and tests, and the other 6 weeks as an inpatient at the RCH, almost 500kms from our home and family undergoing all kinds of tests and procedures trying to get answers, but coming away with none :(  We are trying our best to see the positives and make the best of this situation, but really as much as things are being done we feel we are (as my title suggests) going nowhere fast...

 

Out and about with "Larry" (the drip machine)  

The mundane laundry and the aquarium (which Aerynn LOVED!!!)

 She is STILL spilling fats into her stools on every test, but they immunologist doesn't seem ready to investigate malabsorption just yet, however the consultant said he is not ruling it out at.  Her liver enzymes are rising and on tests are highlighted as being too high - this really concerns me.  As much as the liver is an amazing organ which can repair and regenerate itself, to have it in distress as it seems to be with no answers as to why is a little disconcerting as a parent who can do nothing but watch those levels rise - a good thing though is her biliruben levels have dropped back to 0... 

  Watching the Grand Final - 

Yay the Swans won!!! 

Aerynn is still passing undigested foods into her nappies within hours of consuming them.  Sometimes with no stools around the food - kinda gross, and totally not normal!!  She had another bout of blood in her nappies in the hospital, however her colonoscopy and gastroscopy that the gastro team wanted to perfom and we approved were cancelled and have not been done.  This was VERY frustrating.. to have her on a drip and fasting for the whole day and get nothing out of it :/  But what can one do when they are at the mercy of the hospital system and hospital politics **sigh**

We had a dairy trial in hospital as well.. trying to wean her onto a cow milk based formula... Not very successfully though...  Lots of pain, bloating, tears and poopy naps!!  I tells ya!!  When her system is upset it is UPSET!!!  12 poopy nappies one day, 11 the next.. then we called it quits to the trial as we were returning home to move and I wasn't able to cope with the whole intense reaction thing as well as searching for a house, moving and caring for 5 children at the same time as getting no sleep as Aerynn was in pain all of the time... 

 





Celebrating Domeniks 4th Birthday at the RCH.  He was devestated mummy wasn't at home when he woke up on his birthday morning so they drove down to Melbourne to visit!!

I know there's more I could add as to what happened during the admission, but to be honest I'm exhausted.  I needed to get this post in otherwise I know it'll be a few more weeks before I get the time to sit down and really think about the admission - which to be truthful I don't want to think about all that much.  This last admission to the RCH was marred by issues not relating to Aerynn but I found that some support I was clinging to really wasn't there and disappeared into the distance when I tried to steady myself and find the strength to go on.  I didn't expect to be attacked and left isolated the way I was, especially while in hospital so far away from my support network but I learned that maybe it is better at times to be certain in your own strength than in hoping that others around you may be able to help hold you up.  We've learned, we've hurt but we've grown and know we have the strength to face this all, if need be face it alone...  

 Aerynn LOVED taking self portraits on my iPhone :)  

She's really starting to look like a little girl, losing those baby features **sob**

In the meantime we are HOME!!!  Well, what back with the family ;)  Home will be re-locating in the next couple of weeks back over the border to SA ;)  But we're out of hospital.. back to the "normal"  Aerynn is still on neocate advance (vanilla flavoured), pear and chicken.  We are going to try and introduce wheat into her diet when I am game enough...  It may be soon as she is starting to reject the pear and chicken (It is rather a boring diet LOL)  No dairy for 3-4 months according to her immunlology consultant who says she is having an allergic gut reaction (previously known as intolerance), not an IgE reaction to it.  

 Lots of smiles...                                                            and tears...

So the immediate future also throws up more appointments for us... Warnambool Paed sometime in the next week, Back to Melbourne for another immunology consult on Nov 2, Geneticist in Warnambool Nov 24th then back to the paed before Christmas.  In January Aerynn will see the gastro consultant and we will start looking into why she is having these blood episodes in her nappies and investigate the possibility of malabsorption.  It's more than likely going to result in more admissions to the RCH apparently but if we can finally get answers I'm ok with that...  Answers or at the least explanations are all we are needing to know where to go, so we have somewhere to aim in her treatment and prognosis for improvement.

Falling asleep waiting for nanny 

to answer her facetime call...

Back to the Chateaux...

Aerynn is going to be re-admitted to the RCH this weekend for more tests and hopefully getting some answers heading in another direction.  She is to (hopefully) have a barium meal tomorrow and then follow up with the paed in Warnambool on Friday and off to the RCH for at least another week on Sunday.

I'm kinda concerned with the speed in which all this has been organised.  In the space of 2 hours apparently the paed and immunologists had organised all this.   I'm kinda expecting them to say there was more blood in Aerynns stool sample from Warnambool as her samples have becoming increasingly darker to almost black and smell metallic.  In a way I hope it's that as it's a definite indicator something is going on and it's not all me saying it is, but another way I hope not because as muh as she is having these episodes I don't want her to be really sick.  Probably makes absolutley no sense hey ;)  Anyways kinda scared, kinda relieved but mostly feeling rather rushed... 

Our Stay at Chateaux RCH

One week became 3 once we were admitted to the Sugar Glider ward at the Royal Childrens Hospital in Melbourne. 

We had test after test but ultimately walked out none the wiser with what is really happening inside our little girls body.  To say we're disappointed is an understatement.  Again I think I set myself up to expect too much :/ 

Aerynn was subjected to skin prick tests, food challenges, several blood tests, stool samples, failed SPD's (needle into bladder for urine tests), failed catheterisations (again for urine tests), a sweat test, full body photography, nurses who refused to take note of her symptoms, nurses who didn't check on her during the night when I was up all night caring for a screaming baby, Nurses who were bloody brilliant and would always ask how Aerynn was when we passed in the hallways....  We had it all!!!  And the food... well...  no comment!!!  LOL

We saw genetecists, gen med paeds, gastro paeds, immunologists and allergists, nurses, nurses, nurses...  pathologists, photographers, social workers and student doctors who wanted to use our complicated little Aerynn as their "research subject" 

Out of it all we know she is NOT allergic to any of the foods we suspected.  Why she has developed hives, urticaria etc to them we do not know.  She did not return a single positive SPT which floored us.  She did however fail two foods she was trialled on (beef and pumpkin) and showed intolerance signs to some others but we're to plug on with those and help her reaction improves (egg, yoghurt, bread and banana) She is showing signs of malabsorption with fat globules and crystals showing in her stool tests - the Drs are hoping it's a side effect of being given the "new" foods, and that it will rectify itself before this Fridays paed visit.  I'm not so hopeful on that as these foods were not new to her.. but time will tell ;)

We were able to rule out cystic fibrosis for once and for all **yaaay** and life threatening food allergies.  She has tolerated the new vanilla flavoured neocate advance formula quite well and has been reasonably ok with pear and chicken as introduced foods.  Both still pass through her undigested but it is some form of solid food that has not got many too dastardly side effects to her consuming.  So they are pluses, however to walk out with more questions than answers is really disheartening when we were hoping to finally know what we were dealing with.

I'm now at home, nursing a baby who has severe stomach cramps, bloating, bottom ulcers from acidic bowel motions and in so much pain she is screaming hours on end.  She has had blood filled nappies in the week since being home and 2 more ER visits.  This roller coaster is making me feel so sick and giddy, I want off... but I can't do that to Aerynn, we need to get to the bottom of what is going on with her - hopefully the follow up appointments we have can help with that and we will get some answers in the very near future...

Quick Update....

So much has happened since my last post!  I've not been able to update while at the hospital as the internet wasn't the most reliable :/ and as much as we have been home for almost a week I've been recovering from our hospital stay - it was so draining not just physically draining but mentally!!!

Anyways I am happy to report that Aerynn tested NEGATIVE to Cystic Fibrosis!!!!  Yaaayyy!!!  I almost cried when they told me her result was within normal levels!  However there is another test we are still awaiting results for for another syndrome which can account for the fat in her stools and a few other things :/ 

I'm hoping to update about our hospital stay properly tomorrow, for now just wanted to touch base and wipe the CF demon out of our minds for once and for all :)

The New Villain

We’re now almost finished week 2 of Aerynns hospitalisation. The “one week” has blown out to “at least 3 weeks” now. We’ve had some success with her now starting to tolerate neocate advanced (vanilla) quite well… we had some rocky days to start but now almost back to our cheerful little girl J Yay!! Pear so far has been tolerated for one day, as has (surprise surprise!!!) chicken! Pumpkin however didn’t fair so well and we are re-challenging it next week over subsequent days to see if her reaction is a true intolerance or just Aerynn having an “off” day. We FINALLY got a clean catch urine from her to test for UTI’s. It’s only taken several hours on end on a daily baisis sitting with our little Miss nappyless waiting for an elusive wee… it seems Aerynn wont willingly empty her bladder without a nappy on her butt LOL As funny as that is we ended up having a failed catherterisation and SPA (needle through the belly direct into the bladder) in an attempt to get a sample. We avoided a re-attempt at the catheter and needle by 15 minutes!!! Was a HUGE relief that’s for sure.. and for all that time and effort she has tested negative J

Anyways the biggest news I guess is that we have a new suspect for what is happening inside our little girls body. And it’s not the best suspect out – in fact rather more of a Villain.

When her initial blood and stool samples were tested in Warnambool, so many months ago, we were assured that she was negative to several things, including caeliac disease and cystic fibrosis (http://www.cysticfibrosis.org.au/aboutcf/). This week however Aerynns stool sample has showed that she is not processing fats. In fact her little body is spilling fats into her stools (poohs for those who were wondering). This is most certainly not normal. In fact it’s raised a few very serious concerns when coupled with her other symptoms of failure to thrive, excessive sweating (which is salty so I discover tonight after kissing her while she was sleeping) excessive mucous production and malabsorption issues. Combined she is re-raising super bright, flashing neon signs inviting the words “cystic fibrosis” back to the table.



Even though she had a heel prick test (Guthrie test) at 3 days old and has previously tested negative to CF apparently there are a small percentage of kidlets who are kind of like “sleeper bodies” when it comes to CF. They don’t start to show signs until a little later in their babyhood. It is suspected that Aerynn may be one of these little “sleepers”. TO be spilling fat into the stools is a huge sign for CF. In fact CF is the most common cause for this to happen so I’ve been advised – mind you I was in shock when the gastro specialist came and told me all about this after previously wiping CF from our minds…I remember asking what if it isn’t CF, what are the other options. Apparently there are other rare syndromes that may account for it, but from what I can gather their not that much better than the CF diagnosis. There is a very small chance that she may be spilling fats due to a change in her diet, however as she has not had any increase in fat intake and coupled with her other symptoms we’ve been told to prepare for this diagnosis.



So these last 36 hours have been extremely emotional for me in particular. I really feel we’ve been kicked in the gut. We were looking at a probably diagnosis of RSS which although life changing has no long term health implications to CF which, as most would be aware, has lots of health complications and can be life shortening.

Tomorrow at 9am is our sweat test. This is the diagnostic tool for confirming or ruling out CF. A little metal cup like device will be put on Aerynns arm and for approximately 6 minutes a small current will be passed through it to stimulate her sweat glands. Then we are to have her rugged up nice and warm and try to make her sweat as much as possible for the next 30 minutes. Knowing Aerynn that wont take too much effort LOL We’ve done a sweat test 11 years ago with William, he was obviously negative – but then he also doesn’t have the issues Aerynn has with sweating, malabsorption size etc etc…

To say we’re scared is an understatement. I know we’ve been told to be prepared for a diagnosis before, but this one for some reason has really rocked us. It really didn’t help that the morning of the Gastro specialists visit I woke with the song “Sixty Five Roses” (CF awareness/fundraiser song www.youtube.com/watch?v=Mksi0KI6AiA) in my head and visions of the episode of A Country Practice that featured CF dancing in my dreams… Was my subconscious trying to tell me something Guess time will tell.. but for now it is 2.27am the morning of Aerynns sweat test and sleep is eluding me… my brain is going a gazillion to one and the scenarios playing out aren’t things that should be going through a persons head before they go to sleep… Guess I have to though… have a feeling I’m going to be needing all my strength to get our little one through the day….

Altered Realities

Today is day 4 at the hospital (admitted around 5pm Monday night) And right now I am feeling as though I must come from another planet or am living in some external plane outside of the real world that allows me to interact with those in the real world still.

So far today I’ve been told that Aerynn has been given antibiotics previously and has a skin rash and been prescribed these drugs again to clear it up. She needs to take antibiotics orally 3 times a day for 2 weeks :/ This girl (well in my world at least) has never had an antibiotic in her entire life!!!! Let alone a rash that has been bad enough to be needing a Dr to be checking it :/

Also in my world last night I was up settling, feeding and soothing her 6 times between the hours of midnight and 7am. This morning I am told that ht nurse who introduced herself at 10pm and whom we didn’t see again reported Aerynn had a great night, was really settled and slept well…

And now despite me watching her react in front of my eyes, having others see her react an come out in hives, vomit, diarrhoea etc etc etc in the real world she tests as not allergic to anything :/ How the heck can she be reacting, hiving, vomiting, mucousing, etc etc etc in my world but in the real world nothing – nada… zip… Even with photos….

So I’m obviously living in some altered reality. Things I’m seeing and reporting are apparently not real or happening according to everyone else.

I want to check out of this place right now.. I’m so confused and upset and really have no idea where to turn now. The person parents should be comfortable in turning to has been extremely judgmental of us already (our choice to demand breastfeed and use cloth nappies) so not feeling the support there.

Add to that being told yesterday that unless Aerynn gets hives, swellings or copious vomiting from foods it’s not really considered a “reaction” I’m kinda flustered with this. I know she is mucousing and spiking temps with food but they are not considered reactions to the food! We’re to continue giving her food despite this happening. Despite the fact she’s not sleeping after being fed these foods for whatever reason :/ I can understand that they are not life threatening reactions and that we can push past them but feel they have been dismissed and waved away as “nothing”

Anyways… beam me up Scotty. I do not like where we are at the moment. I feel questioned, judged and found wanting on so many levels and am starting to question my own sanity. It’s not a good place to be :/